Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

Journal of Lipid Research

Volumn 53, Issue 3, 2012, Pages 548-555

  Di Filippo, Mathilde ^a,b   Créhalet, Hervé ^a   Samson Bouma, Marie Elisabeth ^c   Bonnet, Véronique ^a   Aggerbeck, Lawrence P ^c   Rabès, Jean Pierre ^c,d,e   Gottrand, Frederic ^f   Luc, Gérald ^g   Bozon, Dominique ^a   Sassolas, Agnès ^a,b  

^a HOSPICES CIVILS DE LYON   (France)

^b UNIVERSITÉ DE LYON   (France)

^c INSERM   (France)

^d LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^e HÔPITAL AMBROISE PARÉ   (France)

^f UNIV LILLE   (France)

^g LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Chylomicrons; Dyslipidemias; Familial hypocholesterolemia; Gene expression; Genetics; Genotype phenotype correlation; Hepatosteatosis; Lipoprotein assembly; Splicing

Indexed keywords

ALPHA TOCOPHEROL; APOLIPOPROTEIN B; CHYLOMICRON; FAT DROPLET; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MEDIUM CHAIN TRIACYLGLYCEROL; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; SATURATED FATTY ACID; TRIACYLGLYCEROL;

ABETALIPOPROTEINEMIA; ADULT; AMINOTRANSFERASE BLOOD LEVEL; ANGPTL3 GENE; APOB GENE; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHRONIC HEPATITIS; DIARRHEA; DIET RESTRICTION; DIET THERAPY; DNA EXTRACTION; ECHOGRAPHY; ELECTRON MICROSCOPY; ENDOSCOPIC BIOPSY; FATTY LIVER; FEMALE; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSFECTION; GENOTYPE; HETEROZYGOSITY; HUMAN; HYPERBILIRUBINEMIA; INTESTINE CELL; INTRON; JEJUNUM BIOPSY; LIPID DIET; LIVER BIOPSY; LIVER FIBROSIS; LIVER INJURY; MALABSORPTION; MARKER GENE; MISSENSE MUTATION; MTTP GENE; MUTATIONAL ANALYSIS; PCSK9 GENE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN SECRETION; RECURRENT DISEASE; REPORTER GENE; RNA SPLICING; VITAMIN BLOOD LEVEL;

ABETALIPOPROTEINEMIA; CARRIER PROTEINS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION;

EID: 84857734873     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.M020024     Document Type: Article

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